F12S (p.Phe12Ser) variant of MYBPC3 (Myosin-binding protein C, cardiac-type)
F12S (p.Phe12Ser) in MYBPC3 (Myosin-binding protein C, cardiac-type) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Left ventricular noncompaction 10; Hypertrophic cardiomyopathy 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
F12S (p.Phe12Ser) variant details
- p.Phe12Ser
- rs1462884291
- ClinGen CA380342058
- ClinVar RCV002223494
- ClinVar RCV002487024
- Uncertain significance
- not provided; Left ventricular noncompaction 10; Hypertrophic cardiomyopathy 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.795
- REVEL 0.84
- ESM-1b 1.00
- AlphaMissense 0.84
- CADD 29.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; Left ventricular noncompaction 10; Hypertrophic ca)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BIAKA population (allele frequency 0.023)
- Structural context available
- Cited in: Nonsyndromic Hypertrophic Cardiomyopathy Overview. (PMID 20301725)
- Cited in: Clinical utility gene card for: hypertrophic cardiomyopathy (type 1-14). (PMID 21267010)